EyeNet Magazine



   
 
Blink
Photo credit: Angela Chappell, Flinders Medical Centre,
Adelaide, South Australia
 
 
Blink

 

The answer to this month’s mystery image:

Corneal Stromal Dystrophy

This patient has corneal stromal dystrophy with snowflake and linear opacities. The stromal disease in this patient has been shown to be due to the Avellino (R124H) mutation in the BIGH3 (keratoepithelin) gene. Cases such as this have previously been classified on a clinical basis as either having granular or Avellino dystrophy, but the molecular genetic approach now enables more precise classification. Unexpectedly, this patient also has guttata, which are unrelated.



Written by Jamie Craig, MD, associate professor of ophthalmology at Flinders Medical Centre, Adelaide, South Australia (jamie.craig@flinders.edu.au).

 

Blink is edited by Richard E. Hackel, MA, CRA, FOPS.

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